view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADCY2_chr5_7391138_7835081 | 7673269 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02738.hp1 NA19240.hp2 |
a0001a0002a0004 | a0001c0007a0002c0004a0004c0016 | a0001c0007t0006a0002c0004t0001a0004c0016t0008 | a0001c0007t0006g0103 a0002c0004t0001g0039 a0004c0016t0008g0137 |
3 | 9 | 0.3333 | 18 | c.721 others(37): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7673269 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0041 | 1 | 7 | 0.1429 | 18 | c.721 others(37): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7673269 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0080 | 1 | 7 | 0.1429 | 18 | c.721 others(37): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7804040 | A | AAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01109.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0011 | a0001c0001t0002a0001c0001t0003a0002c0003t0011others(1): Show | a0001c0001t0002g0115 a0001c0001t0003g0071 a0002c0003t0011g0070 others(1): Show |
4 | 58 | 0.0690 | 18 | c.277 others(35): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY3_chr2_24814169_24925237 | 24817466 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG01074.hp1 HG01167.hp1 others(4): Show |
a0001 | a0001c0009a0001c0015a0001c0026others(1): Show | a0001c0009t0001a0001c0009t0003a0001c0015t0003others(2): Show | a0001c0009t0001g0031 a0001c0009t0003g0220 a0001c0009t0003g0222 others(4): Show |
7 | 58 | 0.1207 | 18 | c.*24 others(29): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 1702 | chr2 | TogoVar | |||||||
ADCY3_chr2_24814169_24925237 | 24912548 | C | CGCATGTG others(11): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0131 | 1 | 270 | 0.0037 | 18 | c.675 others(35): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123310103 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02630.hp1 NA19011.hp1 |
a0001 | a0001c0001a0001c0021 | a0001c0001t0001a0001c0001t0002a0001c0021t0030 | a0001c0001t0001g0127 a0001c0001t0002g0077 a0001c0021t0030g0187 |
3 | 39 | 0.0769 | 18 | c.244 others(37): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 12/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123345765 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01346.hp2 HG02886.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0011t0005 | a0001c0001t0002g0007 a0001c0011t0005g0180 a0001c0011t0005g0181 |
3 | 110 | 0.0273 | 18 | c.140 others(37): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123345769 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 NA19043.hp1 |
a0001a0003 | a0001c0001a0003c0013 | a0001c0001t0011a0003c0013t0001 | a0001c0001t0011g0238 a0003c0013t0001g0254 a0003c0013t0001g0255 |
3 | 5 | 0.6000 | 18 | c.140 others(37): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123345769 | G | GACAGACA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02293.hp2 HG02523.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0012others(1): Show | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 others(6): Show |
9 | 11 | 0.8182 | 18 | c.140 others(37): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123345769 | G | GACAGACA others(11): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 3 | 0.3333 | 18 | c.140 others(37): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123346607 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01515.hp1 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0025 | a0001c0001t0001g0242 a0001c0001t0002g0074 a0001c0001t0025g0109 |
3 | 19 | 0.1579 | 18 | c.140 others(37): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123348036 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18951.hp2 NA19004.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0012 | a0001c0001t0001g0143 a0001c0001t0002g0082 a0001c0002t0012g0073 |
3 | 8 | 0.3750 | 18 | c.128 others(35): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 2/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123358155 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 a0001c0001t0001g0204 |
2 | 75 | 0.0267 | 18 | c.113 others(37): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123358195 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02630.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0022 | a0001c0001t0017g0006 a0001c0001t0022g0085 |
2 | 127 | 0.0157 | 18 | c.113 others(37): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123359331 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG01496.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0013 | a0001c0001t0001a0001c0001t0002a0001c0003t0007others(1): Show | a0001c0001t0001g0165 a0001c0001t0001g0217 a0001c0001t0001g0235 others(3): Show |
6 | 22 | 0.2727 | 18 | c.113 others(37): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123385308 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0039 | 1 | 204 | 0.0049 | 18 | c.113 others(39): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123396819 | C | CAGGCGAG others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02630.hp1 |
a0001 | a0001c0001a0001c0021 | a0001c0001t0015a0001c0021t0030 | a0001c0001t0015g0185 a0001c0021t0030g0187 |
2 | 114 | 0.0175 | 18 | c.113 others(39): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123439076 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(84): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 others(84): Show |
87 | 90 | 0.9667 | 18 | c.113 others(37): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
ADCY7_chr16_50261551_50323135 | 50281395 | G | GGCAGGTG others(11): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0117 | 1 | 336 | 0.0030 | 18 | c.-26 others(37): Show |
ADCY7 | ENSG00000121281.13 | transcript | ENST00000673801.1 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130926940 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0232 | 1 | 134 | 0.0075 | 18 | c.148 others(39): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
ADCY8_chr8_130775301_131045909 | 130936073 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0121 | 1 | 61 | 0.0164 | 18 | c.148 others(35): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
ADCY8_chr8_130775301_131045909 | 130992382 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02056.hp1 HG02071.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0001a0001c0004t0004 | a0001c0003t0002g0096 a0001c0004t0001g0103 a0001c0004t0004g0101 |
3 | 142 | 0.0211 | 18 | c.961 others(35): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 1/17 | chr8 | TogoVar | |||||||
ADCY8_chr8_130775301_131045909 | 131003206 | T | TCTCACAC others(11): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0231 | 1 | 66 | 0.0152 | 18 | c.961 others(37): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 1/17 | chr8 | TogoVar | |||||||
ADCY9_chr16_3957653_4121442 | 3969569 | A | AATACATA others(11): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0003 | a0001c0003t0056 | a0001c0003t0056g0035 | 1 | 87 | 0.0115 | 18 | c.287 others(37): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
ADCY9_chr16_3957653_4121442 | 3969569 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02165.hp1 NA19063.hp1 |
a0001a0002 | a0001c0009a0002c0004 | a0001c0009t0004a0002c0004t0009 | a0001c0009t0004g0271 a0002c0004t0009g0263 |
2 | 88 | 0.0227 | 18 | c.287 others(37): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
ADCY9_chr16_3957653_4121442 | 3969612 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0031 | a0002c0031t0008 | a0002c0031t0008g0152 | 1 | 246 | 0.0041 | 18 | c.287 others(37): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
ADCY9_chr16_3957653_4121442 | 4000968 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01943.hp1 HG02698.hp2 others(2): Show |
a0001a0002 | a0001c0003a0001c0022a0001c0057others(2): Show | a0001c0003t0001a0001c0022t0058a0001c0057t0093others(2): Show | a0001c0003t0001g0275 a0001c0022t0058g0051 a0001c0057t0093g0310 others(2): Show |
5 | 37 | 0.1351 | 18 | c.188 others(37): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
ADCY9_chr16_3957653_4121442 | 4018951 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01943.hp1 HG01981.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(11): Show | a0001c0001t0002a0001c0002t0011a0001c0002t0030others(18): Show | a0001c0001t0002g0220 a0001c0002t0011g0205 a0001c0002t0030g0026 others(20): Show |
23 | 53 | 0.4340 | 18 | c.169 others(39): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
ADCY9_chr16_3957653_4121442 | 4097487 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0006 | a0001c0006t0017 | a0001c0006t0017g0145 | 1 | 20 | 0.0500 | 18 | c.169 others(39): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
ADCY9_chr16_3957653_4121442 | 4097487 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02896.hp2 NA21309.hp1 |
a0001a0002 | a0001c0047a0002c0014 | a0001c0047t0090a0002c0014t0001 | a0001c0047t0090g0306 a0002c0014t0001g0276 |
2 | 21 | 0.0952 | 18 | c.169 others(39): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
ADCY9_chr16_3957653_4121442 | 4097487 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02630.hp2 HG03209.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0004 | a0001c0001t0002a0001c0001t0099a0001c0009t0095others(1): Show | a0001c0001t0002g0280 a0001c0001t0099g0297 a0001c0009t0095g0287 others(1): Show |
4 | 23 | 0.1739 | 18 | c.169 others(39): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
ADCY9_chr16_3957653_4121442 | 4097487 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0007 | a0001c0007t0127 | a0001c0007t0127g0320 | 1 | 20 | 0.0500 | 18 | c.169 others(39): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
ADCYAP1R1_chr7_31047308_31116474 | 31062335 | C | CTCTGAGG others(11): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0241 | 1 | 320 | 0.0031 | 18 | c.-71 others(33): Show |
ADCYAP1R1 | ENSG00000078549.16 | transcript | ENST00000304166.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADD1_chr4_2838844_2935062 | 2852207 | C | CCTTTCCT others(11): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02040.hp2 HG02132.hp1 others(12): Show |
a0002a0006 | a0002c0002a0006c0011 | a0002c0002t0001a0002c0002t0005a0006c0011t0001 | a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0165 others(12): Show |
15 | 69 | 0.2174 | 18 | c.-21 others(35): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADD1_chr4_2838844_2935062 | 2852207 | C | CCTTTCTT others(11): Show |
intron_variant | MODIFIER | HG02451.hp2 NA19060.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 a0001c0001t0001g0228 a0001c0001t0001g0229 |
3 | 57 | 0.0526 | 18 | c.-21 others(35): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADD3_chr10_110002984_110140565 | 110003302 | G | GGGGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG01069.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025 others(14): Show |
17 | 151 | 0.1126 | 18 | c.-50 others(29): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 4681 | chr10 | TogoVar | |||||||
ADD3_chr10_110002984_110140565 | 110003302 | G | GGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0095 others(1): Show |
4 | 138 | 0.0290 | 18 | c.-50 others(29): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 4681 | chr10 | TogoVar | |||||||
ADD3_chr10_110002984_110140565 | 110062200 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0281 | 1 | 2 | 0.5000 | 18 | c.-29 others(37): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADD3_chr10_110002984_110140565 | 110063737 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0040 a0001c0001t0002g0183 |
2 | 32 | 0.0625 | 18 | c.-29 others(37): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADD3_chr10_110002984_110140565 | 110065539 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01168.hp2 HG01169.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0041 a0001c0001t0001g0043 others(8): Show |
11 | 73 | 0.1507 | 18 | c.-29 others(37): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133092784 | A | AGAGAGGG others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01884.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025 | a0001c0001t0002g0060 a0001c0001t0002g0242 a0001c0001t0025g0047 others(1): Show |
4 | 356 | 0.0112 | 18 | c.3+3 others(31): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA2_chr8_37791883_37849896 | 37796226 | A | AACACACA others(11): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0152 | 1 | 23 | 0.0435 | 18 | c.-10 others(29): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 656 | chr8 | TogoVar | |||||||
ADGRA2_chr8_37791883_37849896 | 37804100 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01167.hp2 HG02056.hp2 others(6): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0005c0045others(1): Show | a0001c0001t0001a0001c0002t0001a0005c0045t0001others(1): Show | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(6): Show |
9 | 109 | 0.0826 | 18 | c.266 others(35): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRA2_chr8_37791883_37849896 | 37804100 | G | GAGACACA others(11): Show |
intron_variant | MODIFIER | HG02723.hp1 NA18942.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0004 | a0001c0001t0001g0324 a0001c0004t0004g0323 |
2 | 102 | 0.0196 | 18 | c.266 others(35): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRA2_chr8_37791883_37849896 | 37806526 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 HG04115.hp1 HG04184.hp1 |
a0001a0002 | a0001c0001a0001c0012a0002c0020 | a0001c0001t0001a0001c0012t0001a0002c0020t0001 | a0001c0001t0001g0128 a0001c0012t0001g0021 a0002c0020t0001g0095 |
3 | 227 | 0.0132 | 18 | c.267 others(35): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRA3_chr4_22382376_22521066 | 22390320 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0006 | 1 | 68 | 0.0147 | 18 | c.262 others(37): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 17/18 | chr4 | TogoVar | |||||||
ADGRB1_chr8_142444649_142550007 | 142501733 | T | TGGTGGTG others(11): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0170 | 1 | 308 | 0.0032 | 18 | c.267 others(37): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142548044 | A | AATGATGG others(11): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(100): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(21): Show | a0001c0001t0001g0218 a0001c0001t0001g0228 a0001c0001t0001g0245 others(99): Show |
103 | 200 | 0.5150 | 18 | c.*36 others(29): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 3038 | chr8 | TogoVar | |||||||
ADGRB2_chr1_31722117_31769340 | 31728803 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | NA18969.hp2 NA18995.hp1 NA19057.hp2 |
a0001a0004 | a0001c0002a0001c0004a0004c0008 | a0001c0002t0001a0001c0004t0001a0004c0008t0003 | a0001c0002t0001g0094 a0001c0004t0001g0134 a0004c0008t0003g0210 |
3 | 40 | 0.0750 | 18 | c.438 others(35): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 29/32 | chr1 | TogoVar |